Incidental Mutation 'R0109:Fam13b'
ID 17392
Institutional Source Beutler Lab
Gene Symbol Fam13b
Ensembl Gene ENSMUSG00000036501
Gene Name family with sequence similarity 13, member B
Synonyms 2610024E20Rik
MMRRC Submission 038395-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R0109 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 34442352-34506823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34451308 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 601 (I601T)
Ref Sequence ENSEMBL: ENSMUSP00000038199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040506]
AlphaFold Q8K2H3
Predicted Effect probably benign
Transcript: ENSMUST00000040506
AA Change: I601T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: I601T

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
RhoGAP 36 209 3.28e-44 SMART
coiled coil region 220 240 N/A INTRINSIC
low complexity region 280 295 N/A INTRINSIC
low complexity region 484 495 N/A INTRINSIC
coiled coil region 507 532 N/A INTRINSIC
low complexity region 719 726 N/A INTRINSIC
coiled coil region 778 807 N/A INTRINSIC
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 90.6%
  • 3x: 88.5%
  • 10x: 83.8%
  • 20x: 77.5%
Validation Efficiency 90% (95/106)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,659,303 H710Q probably benign Het
Abca14 A T 7: 120,318,762 K1496* probably null Het
Anapc1 C A 2: 128,634,693 R1335L probably damaging Het
Arhgef10l A T 4: 140,578,294 S203T probably benign Het
Astn1 C T 1: 158,664,104 T41I possibly damaging Het
Atrnl1 T A 19: 57,755,517 Y1184N possibly damaging Het
Avil A G 10: 127,013,644 N603S probably benign Het
Brca1 T C 11: 101,531,090 D149G possibly damaging Het
Car14 C A 3: 95,899,451 A234S probably benign Het
Cep164 A C 9: 45,771,587 L935R probably damaging Het
Cps1 T C 1: 67,229,418 V1435A possibly damaging Het
Csmd2 T G 4: 128,544,743 S3038R probably benign Het
Cyp2j6 A T 4: 96,518,157 I459N probably damaging Het
Cyth1 T C 11: 118,182,306 E242G probably damaging Het
Dclk3 T G 9: 111,467,670 L94R possibly damaging Het
Disp2 T C 2: 118,791,816 S1010P probably damaging Het
Dlec1 G A 9: 119,105,824 R145H probably damaging Het
Dsg3 T C 18: 20,540,134 V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 D309V probably damaging Het
Fgd5 T A 6: 91,988,235 M325K possibly damaging Het
Frmpd1 A T 4: 45,279,340 E688D probably benign Het
Gabrb1 C T 5: 72,121,946 probably benign Het
Gm10130 A T 2: 150,323,841 probably benign Het
Gm6590 A T 6: 130,484,906 noncoding transcript Het
Gse1 T A 8: 120,567,785 S284T probably damaging Het
Ipo13 C T 4: 117,905,016 R387Q possibly damaging Het
Kctd16 A G 18: 40,259,151 E264G probably benign Het
Krt73 A T 15: 101,796,395 L352* probably null Het
Mapk15 A T 15: 75,996,077 K153* probably null Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mcoln2 C G 3: 146,175,718 R210G probably damaging Het
Miox G A 15: 89,335,581 V91I probably benign Het
Myh7b A G 2: 155,611,674 E6G possibly damaging Het
Ncapg A G 5: 45,693,748 probably null Het
Nfyb G A 10: 82,755,002 A65V possibly damaging Het
Olfr1241 A G 2: 89,482,803 F111L probably benign Het
Olfr1442 C A 19: 12,674,860 F218L probably benign Het
Olfr646 T C 7: 104,106,605 S109P probably damaging Het
Osbp2 A C 11: 3,711,791 S754A probably benign Het
Pard3 C T 8: 127,398,666 R712C probably damaging Het
Parp9 T C 16: 35,948,341 I64T probably damaging Het
Pcm1 T A 8: 41,257,937 H81Q possibly damaging Het
Pcnt G A 10: 76,389,196 P1825S probably benign Het
Pfkfb4 T C 9: 108,998,889 V43A probably benign Het
Pgap1 A T 1: 54,494,825 V643E probably damaging Het
Pip5k1a T C 3: 95,065,442 T433A probably benign Het
Pip5k1b T A 19: 24,379,047 M176L probably benign Het
Polg2 T C 11: 106,777,132 probably benign Het
Pomp T A 5: 147,875,513 H136Q probably benign Het
Ppfia4 A T 1: 134,324,217 probably null Het
Prdx2 G A 8: 84,970,251 G4S probably benign Het
Rbm28 C T 6: 29,160,105 G70D probably benign Het
Rdh10 T A 1: 16,106,265 I83N probably damaging Het
Rin3 A G 12: 102,313,081 I50V possibly damaging Het
Rnf122 T C 8: 31,124,849 probably benign Het
Sik2 A G 9: 50,899,475 M447T possibly damaging Het
Sla2 A G 2: 156,883,587 probably null Het
Slc51a T A 16: 32,477,607 I192L probably benign Het
Sorcs1 T C 19: 50,378,891 probably benign Het
Spata16 T A 3: 26,913,267 F389I probably damaging Het
Srebf1 G A 11: 60,201,804 A793V probably benign Het
Tbc1d9b T C 11: 50,158,434 V736A probably benign Het
Tbx15 C A 3: 99,351,866 T351N possibly damaging Het
Tep1 A G 14: 50,851,916 probably null Het
Tmed11 T A 5: 108,777,412 D178V probably damaging Het
Traf7 A G 17: 24,513,926 F110L probably benign Het
Ubqlnl C T 7: 104,150,192 V33M probably damaging Het
Vcan A T 13: 89,678,073 probably null Het
Vmn1r194 A G 13: 22,245,047 Y278C probably damaging Het
Vmn1r46 T C 6: 89,977,062 F298L probably benign Het
Vps13b A G 15: 35,572,119 T961A probably benign Het
Wdr48 G A 9: 119,918,568 probably benign Het
Wwp1 G A 4: 19,641,725 probably benign Het
Zfp217 C T 2: 170,115,462 A539T probably benign Het
Zfp839 G A 12: 110,860,874 E400K possibly damaging Het
Other mutations in Fam13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Fam13b APN 18 34487096 missense possibly damaging 0.92
IGL00402:Fam13b APN 18 34454718 missense probably damaging 1.00
IGL00556:Fam13b APN 18 34497435 missense probably damaging 0.99
IGL02123:Fam13b APN 18 34445618 unclassified probably benign
IGL02313:Fam13b APN 18 34454656 missense probably damaging 1.00
IGL02346:Fam13b APN 18 34462105 missense probably benign 0.00
IGL02347:Fam13b APN 18 34454704 missense probably damaging 1.00
IGL02694:Fam13b APN 18 34451206 critical splice donor site probably null
IGL03347:Fam13b APN 18 34462051 splice site probably benign
R0233:Fam13b UTSW 18 34448084 missense probably damaging 1.00
R0455:Fam13b UTSW 18 34445528 unclassified probably benign
R1229:Fam13b UTSW 18 34445583 missense probably benign 0.05
R1397:Fam13b UTSW 18 34445583 missense probably benign 0.05
R1571:Fam13b UTSW 18 34497432 missense possibly damaging 0.92
R1703:Fam13b UTSW 18 34451439 critical splice acceptor site probably null
R1732:Fam13b UTSW 18 34487134 missense probably benign 0.04
R1777:Fam13b UTSW 18 34457760 missense possibly damaging 0.84
R1956:Fam13b UTSW 18 34445329 missense possibly damaging 0.69
R2296:Fam13b UTSW 18 34494761 missense possibly damaging 0.88
R3881:Fam13b UTSW 18 34462059 critical splice donor site probably null
R3896:Fam13b UTSW 18 34462955 splice site probably benign
R5277:Fam13b UTSW 18 34462190 missense probably benign
R5759:Fam13b UTSW 18 34497435 missense probably damaging 0.99
R5817:Fam13b UTSW 18 34457797 missense possibly damaging 0.93
R5897:Fam13b UTSW 18 34454081 missense possibly damaging 0.83
R6009:Fam13b UTSW 18 34497405 missense possibly damaging 0.92
R6020:Fam13b UTSW 18 34494774 missense probably damaging 1.00
R6087:Fam13b UTSW 18 34487139 missense possibly damaging 0.48
R6151:Fam13b UTSW 18 34494277 missense probably damaging 0.96
R6454:Fam13b UTSW 18 34457662 critical splice donor site probably null
R6464:Fam13b UTSW 18 34473631 nonsense probably null
R6679:Fam13b UTSW 18 34487022 missense possibly damaging 0.53
R6723:Fam13b UTSW 18 34498026 missense possibly damaging 0.86
R6990:Fam13b UTSW 18 34497447 missense possibly damaging 0.92
R7420:Fam13b UTSW 18 34494611 missense probably damaging 1.00
R7517:Fam13b UTSW 18 34494607 missense probably damaging 0.98
R7534:Fam13b UTSW 18 34498007 missense probably damaging 0.97
R7889:Fam13b UTSW 18 34457691 missense probably benign 0.00
R8139:Fam13b UTSW 18 34473633 missense possibly damaging 0.50
R8776:Fam13b UTSW 18 34451393 missense probably damaging 1.00
R8776-TAIL:Fam13b UTSW 18 34451393 missense probably damaging 1.00
R8826:Fam13b UTSW 18 34498017 missense probably damaging 0.96
R9166:Fam13b UTSW 18 34462199 missense probably benign 0.10
Posted On 2013-01-31